Stem Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa

 

CLINICAL TRIAL

This is an open label, single institution, pilot trial to determine the incidence of detectable donor derived collagen type VII by day 100 after chemotherapy and transplantation of allogeneic stem cells from a healthy donor in patients with documented recessive Dystrophic Epidermolysis Bullosa (rDEB).

Eligibility Criteria

1. Patients aged < 25 years of age
2. Documented collagen type VII deficiency by a) antigenic mapping (LH7.2 anitbody), b) ultrastructure analysis of anchoring fibrils, and c) DNA mutation analysis.
3. Adequate organ function
4. HLA matched related or unrelated donor or partially HLA matched umbilical cord blood donor

Ineligibility Criteria

1. Active infection
2. History of HIV infection
3. Evidence of squamous cell carcinoma
4. Prior transplantation of tissues from the bone marrow donor
5. A diagnosis of Junctional Epidermolysis Bullosa (JEB)

If you or your child may meet the above criteria, you may be eligible to come to the University of Minnesota. Prior to evaluation and screening to confirm eligibility, the following information is required:

1. Clinical summary from treating physician(s), including history of prior surgeries, transfusions, skin explants, medications, allergies, infections.
2. Genotype report
3. Skin biopsy report (including immunofluorescent staining)
4. HLA typing on affected subject and unaffected siblings (instructions will be provided by our team)
5. Specific needs for dressings and skin

SCREENING VISIT

The screening visit will involve skin biopsies, blood tests, and possible genetic testing at the University of Minnesota. In addition, the visit will entail review of the clinical history and detailed to review of what is known and unknown regarding the proposed treatment procedure using stem cell populations from an allogeneic donor.

Based on this information, you or your child may need additional evaluations (e.g., dermatology, gastroenterology).
If you would like more information or have questions regarding the study, please contact Tim Krepski, RN, at 612-273-2800, toll-free at 1-888-601-0787, or by email at bmt@umn.edu.

How your support for EB Research at the University of Minnesota will be used?

With additional funds, we will search for more effective, safer cures. For example, we would search for better ways for isolating the cells responsible for correction of rDEB and enhancing the rate of recovery. In addition, we would investigate each different stem cell sources, like cord blood, as marrow donors may not be available, and test animal models for potential ways of curing other severe forms of EB.

Funds will also be used to expand the breadth of clinical activities to meet the needs of this patient population and to support the associated clinical investigations.